ClinVar Miner

List of variants in gene BBS12 reported as uncertain significance for Bardet-Biedl syndrome

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Total variants: 54
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HGVS dbSNP
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu) rs369878286
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp) rs202225266
NM_152618.3(BBS12):c.1205A>G (p.Gln402Arg)
NM_152618.3(BBS12):c.1225G>A (p.Val409Met) rs1578491070
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser) rs199596849
NM_152618.3(BBS12):c.1262G>A (p.Arg421His)
NM_152618.3(BBS12):c.1292G>A (p.Arg431Gln)
NM_152618.3(BBS12):c.1297G>A (p.Val433Ile)
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg)
NM_152618.3(BBS12):c.1382A>G (p.Asn461Ser)
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)
NM_152618.3(BBS12):c.1402G>A (p.Gly468Arg)
NM_152618.3(BBS12):c.1407C>G (p.Val469=)
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly) rs772894742
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys)
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr)
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu) rs374865012
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr)
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.1597G>A (p.Glu533Lys)
NM_152618.3(BBS12):c.1653T>G (p.His551Gln)
NM_152618.3(BBS12):c.1660G>T (p.Ala554Ser)
NM_152618.3(BBS12):c.1844C>A (p.Ala615Asp)
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr)
NM_152618.3(BBS12):c.1931A>G (p.Asn644Ser)
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu) rs147281546
NM_152618.3(BBS12):c.19G>A (p.Val7Ile)
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu)
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490
NM_152618.3(BBS12):c.2021G>A (p.Arg674His) rs766952842
NM_152618.3(BBS12):c.2037A>T (p.Leu679Phe) rs1553941612
NM_152618.3(BBS12):c.2062A>G (p.Ser688Gly)
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)
NM_152618.3(BBS12):c.2117G>C (p.Gly706Ala)
NM_152618.3(BBS12):c.2132_*1del (p.Ter711Xaa) rs1578492553
NM_152618.3(BBS12):c.274G>A (p.Val92Ile)
NM_152618.3(BBS12):c.344T>C (p.Val115Ala)
NM_152618.3(BBS12):c.433A>G (p.Lys145Glu)
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654
NM_152618.3(BBS12):c.571G>A (p.Gly191Arg)
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445
NM_152618.3(BBS12):c.668A>G (p.Asp223Gly) rs1060501473
NM_152618.3(BBS12):c.67G>A (p.Ala23Thr)
NM_152618.3(BBS12):c.68C>T (p.Ala23Val)
NM_152618.3(BBS12):c.745C>G (p.Pro249Ala)
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly)
NM_152618.3(BBS12):c.810G>C (p.Glu270Asp)
NM_152618.3(BBS12):c.908A>G (p.Asn303Ser)
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del)
NM_152618.3(BBS12):c.978_979inv (p.Ser327Thr)

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